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Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita
Author(s) -
Kirschner Martin,
Vieri Margherita,
Kricheldorf Kim,
Ferreira Monica S. Ventura,
Wlodarski Marcin W.,
Schwarz Michaela,
Balabanov Stefan,
Rolles Benjamin,
Isfort Susanne,
Koschmieder Steffen,
Höchsmann Britta,
Panse Jens,
Brümmendorf Tim H.,
Beier Fabian
Publication year - 2021
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.16997
Subject(s) - dyskeratosis congenita , telomere , bone marrow failure , myelodysplastic syndromes , androgen , medicine , bone marrow , telomerase , biology , cancer research , oncology , genetics , haematopoiesis , stem cell , gene , hormone
Summary Dyskeratosis Congenita (DKC) is a systemic disorder caused by mutations resulting in impaired telomere maintenance. Clinical features include bone marrow failure and an increased risk of developing hematological malignancies. There are conflicting data whether androgen derivatives (AD) can elongate telomeres in vivo and whether AD treatment enhances the risk of gaining myelodysplastic syndrome‐related mutations. Seven TERC or TERT ‐mutated DKC patients underwent AD treatment. All patients revealed hematological response. Telomere length of lymphocytes and granulocytes increased significantly and no MDS‐related mutations were detected. Pending longer follow‐up, treatment with AD seems to represent an efficient and safe therapy for DKC patients.